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Down’s Syndrome Research Foundation UK Response to the UK Government’s Draft Statutory Guidance for the Down Syndrome Act 2022
The Down Syndrome Research Foundation UK (DSRF UK) commends the government’s efforts to gather momentum with the Draft Statutory Guidance accompanying the Down Syndrome Act 2022, bringing us a step closer to Guidance that will fulfil the hopes of the DS community for this legislation. The recognition of the need for improved support across health, education, and social care represents an important step forward.
DSRF UK is the UK’s only Down syndrome research charity, and was involved in the drafting of the Down Syndrome Act. As the consultation on the latest iteration of the Guidance comes to a close, we find it necessary to highlight areas where it currently does not match with the needs. We find that the current draft remains largely aspirational, and lacks the specificity, accountability, and clinical clarity required to meaningfully improve outcomes for people with Down syndrome.
Down syndrome is the most common congenital syndrome, with characteristics that are visually identifiable to non-experts. Despite their identifiability, people with Down syndrome commonly encounter a widespread lack of appropriate response to their needs, across all of the sectors of health and social care responsible for meeting those needs. In fact, the very identifiability of the syndrome often leads to a dismissal of their needs as ‘untreatable’, through diagnostic overshadowing.
If approached with focus and clarity, the Down Syndrome Act has high potential to act as a forerunner and exemplar of better policy and practices for people with similar needs. However, we strongly believe that if we can’t get it right for the most common congenital syndrome with such a clearly identifiable and predictable needs profile, we are in a weakened position to get it right for others. We strongly recommend the approach of making the Down Syndrome Act focused primarily on the needs of people with Down syndrome: not to exclude others, but to pave the way for more robust processes to include every need.
Across the board, we would hope to see the final guidance linking identified needs to expected provision, pathways, commissioning responsibilities and review mechanisms, rather than primarily describing needs.
We would like to indicate some themes where the Guidance could be strengthened. In particular, significant shortcomings persist in the areas of diagnostic overshadowing, Down-syndrome specific training, speech and language provision, and the protection of human rights across a lifetime, from prenatal care to end-of-life support. In general, we find that the tone of the draft is too passive for an Act intended to improve outcomes, and we recommend that the final version should set clearer expectations for implementation, oversight and local accountability.
Diagnostic Overshadowing
A central concern for DSRF UK is the continued risk of diagnostic overshadowing. Diagnostic overshadowing is only directly mentioned twice in the draft Guidance, but it is a prevalent problem recognised in the Down syndrome community. The draft guidance does not provide sufficiently explicit instruction to prevent clinicians from attributing changes in behaviour, mood, or functioning solely to a person’s Down syndrome, rather than investigating potential underlying physical or mental health conditions. We believe that diagnostic overshadowing should have been identified as a major issue to be tackled in healthcare circles, as it is one of the clearest places where the guidance can prevent avoidable harm.
The Draft Guidance does not adequately address the risk that physical symptoms – such as pain, fatigue, or behavioural change – will be misattributed to Down syndrome rather than recognised as indicators of common co-occurring conditions (e.g. thyroid dysfunction, cardiac disease, or sleep disorders). Evidence and stakeholder feedback emphasise that this leads to delayed diagnosis and avoidable harm.
This is particularly concerning in psychiatric and mental health contexts. Without awareness of the dangers of diagnostic overshadowing, and clear, enforceable expectations that physicians will assess, investigate, safety-net and follow up properly, there remains a high likelihood that treatable conditions – such as depression, anxiety, pain, or early dementia – will be overlooked. The guidance should explicitly mandate that any change in behaviour or mental state triggers a comprehensive, multidisciplinary assessment.
The dismissive nature of diagnostic overshadowing can lead to many disorders being obscured and action not being taken, including in the case of Down Syndrome Regression Disorder (DSRD). DSRD is mentioned in one paragraph in the Down Syndrome Needs Profile Paper, but not even referred to once directly in the Draft Guidance. This seems like a significant oversight, given that the condition is Down syndrome specific: a “devastating” disorder that has been brought before parliament in the recent past, with parents and families expressing their frustration and grief that no specialists knew of the disorder or how to treat it. It has been clearly expressed that families would like better awareness among professionals about this syndrome, research into the condition, and a system to record cases, and the DS Act Guidance would be a logical repository for resources and advice in this area. We would recommend that a section dedicated to this disorder should be added to the Guidance.
Concerns about healthcare for people with Down syndrome touches on major issues, given that people with Down syndrome suffer a much higher rate of avoidable deaths compared to the general population.
In general, the Guidance should also emphasise the importance of baseline assessments and longitudinal understanding of the individual.
Specific Training Needs
The draft guidance places undue reliance on generic learning disability (LD) training, failing to recognise the distinct and complex needs of people with Down syndrome. This gap has been highlighted by multiple organisations including Down Syndrome UK and the National Down Syndrome Policy Group who stress that Down syndrome-specific knowledge is essential for safe and effective care, saying “Generic disability training does not equip professionals with the knowledge required”.
DSRF UK strongly supports the call for mandatory, specialist training for professionals across psychiatric, learning disability, and all health services supporting people with Down syndrome. This training must include understanding of the specific cognitive profile associated with Down syndrome, common co-occurring health conditions, and communication differences. Without such targeted training, clinicians are ill-equipped to deliver appropriate care, increasing the risk of misdiagnosis, inadequate treatment, and poor health outcomes.
The guidance should therefore move beyond general awareness and establish clear requirements for accredited, condition-specific training, alongside mechanisms for monitoring compliance and impact. This kind of training should be explicit across health, social care, education and housing, because generic learning disability training is not enough.
Speech, Language and Communication
DSRF UK is also asking for more precise wording on core facts, especially an unequivocal recognition that people with Down syndrome have a learning disability and a characteristic speech, language and communication profile. NHS England recognises that “everyone with Down’s syndrome has some level of learning disability”, yet the draft Guidance only indicates a ‘likely’ need for support. This is needlessly ambiguous wording and risks under-recognition of need and inconsistent support.
Speech, language, and communication needs however are fundamental to the health and wellbeing of people with Down syndrome, and the draft guidance does not adequately reflect their central role in assessment, diagnosis, and ongoing care. Evidence from clinical and research communities, including the Communication Excellence Network (CEN), highlights that communication difficulties are intrinsic to Down syndrome and require specialist, ongoing support.
Speech and Language Therapists (SLTs) must be recognised as core members of multidisciplinary teams, particularly within mental health and psychiatric services. Effective communication support is essential not only for day-to-day functioning but also for accurate clinical assessment. Without appropriate adjustments, individuals may be unable to convey symptoms, consent to treatment, or engage meaningfully in care planning.
The draft guidance currently underplays this need, treating speech and language support as ancillary rather than essential. It should instead specify that access to SLT services is a standard component of care across a lifetime, and that all professionals should be trained in adapting communication to meet individual needs.
Protection of Human Rights: Prenatal to End of Life
The guidance also lacks sufficient clarity and strength in its approach to protecting the human rights of people with Down syndrome. There are inconsistencies in how rights are upheld, particularly in areas such as prenatal care, access to healthcare, and due regard to end-of-life decision-making.
In prenatal contexts, there is a need for balanced, evidence-based information to be provided to expectant parents, ensuring that parents are not given outdated or negative messaging. The guidance should explicitly address this, promoting non-directive counselling and accurate representation of life outcomes for people with Down syndrome.
Across a lifetime, the absence of clearly defined service pathways is a significant weakness. While the guidance acknowledges needs in areas such as ageing and dementia, it fails to specify how services should be structured or delivered. This is particularly problematic given the high prevalence of Alzheimer’s disease in people with Down syndrome and the need for early, proactive support. At end of life, the guidance must reinforce the importance of equitable access to palliative care, advance care planning, and respect for individual preferences. Without explicit expectations, there is a risk that people with Down syndrome will continue to experience disparities in care and decision-making.
Conclusion
In its current form, the Draft Statutory Guidance represents an important but incomplete step. It successfully raises awareness but falls short of establishing the concrete expectations required to drive systemic change. Across all key areas that we have mentioned – diagnostic overshadowing, workforce training, speech and language provision, and human rights protection – DSRF UK holds that the guidance must move beyond general principles to deliver clear standards for practice, accountability, and service provision.
DSRF UK urges the Government to strengthen the guidance by:
- Providing explicit protocols to prevent diagnostic overshadowing;
- Mandating Down syndrome-specific training across relevant professional groups;
- Recognising speech and language support as a core component of care, with SLTs embedded in multidisciplinary teams;
- Defining clear, enforceable service pathways across a lifespan;
- Ensuring the consistent protection of human rights from prenatal care through to end-of-life support;
- Promoting accurate, respectful clinical language and appropriate recognition of learning disability.
We have found that the draft Guidance is helpful in referring to anticipatory reasonable adjustments and the NHS reasonable adjustment flag. Building on that, we would also ask for clearer practical expectations on longer appointments, provision of accessible information and visual supports, carer involvement where appropriate, quieter environments, and recording adjustments consistently across services.
Overall, we find that the final guidance will need cleaner legal drafting so that authorities understand what is mandatory, what is expected, and what is optional best practice. We strongly believe that the guidance cannot fulfil its intended purpose and lead to meaningful improvements in the lives of people with Down syndrome and their families without addressing the gaps we have identified.
27th March 2026
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